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Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders

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Specialty Molecular Biology
Date 2017 Aug 22
PMID 28824374
Citations 116
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Abstract

The ATP-dependent BRG1/BRM associated factor (BAF) chromatin remodeling complexes are crucial in regulating gene expression by controlling chromatin dynamics. Over the last decade, it has become increasingly clear that during neural development in mammals, distinct ontogenetic stage-specific BAF complexes derived from combinatorial assembly of their subunits are formed in neural progenitors and post-mitotic neural cells. Proper functioning of the BAF complexes plays critical roles in neural development, including the establishment and maintenance of neural fates and functionality. Indeed, recent human exome sequencing and genome-wide association studies have revealed that mutations in BAF complex subunits are linked to neurodevelopmental disorders such as Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, Kleefstra's syndrome spectrum, Hirschsprung's disease, autism spectrum disorder, and schizophrenia. In this review, we focus on the latest insights into the functions of BAF complexes during neural development and the plausible mechanistic basis of how mutations in known BAF subunits are associated with certain neurodevelopmental disorders.

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References
1.
Basak A, Hancarova M, Ulirsch J, Balci T, Trkova M, Pelisek M . BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Invest. 2015; 125(6):2363-8. PMC: 4497765. DOI: 10.1172/JCI81163. View

2.
Hu G, Schones D, Cui K, Ybarra R, Northrup D, Tang Q . Regulation of nucleosome landscape and transcription factor targeting at tissue-specific enhancers by BRG1. Genome Res. 2011; 21(10):1650-8. PMC: 3202282. DOI: 10.1101/gr.121145.111. View

3.
Kadoch C, Hargreaves D, Hodges C, Elias L, Ho L, Ranish J . Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Nat Genet. 2013; 45(6):592-601. PMC: 3667980. DOI: 10.1038/ng.2628. View

4.
Tang L, Nogales E, Ciferri C . Structure and function of SWI/SNF chromatin remodeling complexes and mechanistic implications for transcription. Prog Biophys Mol Biol. 2010; 102(2-3):122-8. PMC: 2924208. DOI: 10.1016/j.pbiomolbio.2010.05.001. View

5.
Takenouchi T, Yoshihashi H, Sakaguchi Y, Uehara T, Honda M, Takahashi T . Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation. Am J Med Genet A. 2016; 170(12):3249-3252. DOI: 10.1002/ajmg.a.37861. View